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Literature summary for 2.7.10.2 extracted from

  • Candotti, F.; Oakes, S.A.; Johnston, J.A.; Giliani, S.; Schumacher, R.F.; Mella, P.; Fiorini, M.; Ugazio, A.G.; Badolato, R.; Notarangelo, L.D.; Bozzi, F.; Macchi, P.; Strina, D.; Vezzoni, P.; Blaese, R.M.; O'Shea, J.J.; Villa, A.
    Structural and functional basis for JAK3-deficient severe combined immunodeficiency (1997), Blood, 90, 3996-4003.
    View publication on PubMed
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens mutations of the Janus family kinase JAK3 are responsible for autosomal recessive severe combined immunodeficiency. Abnormalities in tyrosine phosphorylation of JAK3 in response to interleukin-2 (IL-2) and IL-4 is present in all patients. In one patient carrying a single amino acid change, Glu481Gly, in the JH3 domain of JAK3, a partially conserved IL-2 responses is observed resulting in reduced but detectable levels of JAK3 and STAT5 phosphorylation. A single cysteine to arginine substitution, Cys759Arg, results in high basal levels of constitutive JAK3 tyrosine phosphorylation unresponsive to either downregulation by serum starvation or cytokine-mediated upregulation ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P52333
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information mutations of the Janus family kinase JAK3 are responsible for autosomal recessive severe combined immunodeficiency. Abnormalities in tyrosine phosphorylation of JAK3 in response to interleukin-2 (IL-2) and IL-4 is present in all patients. In one patient carrying a single amino acid change, Glu481Gly, in the JH3 domain of JAK3, a partially conserved IL-2 responses is observed resulting in reduced but detectable levels of JAK3 and STAT5 phosphorylation. A single cysteine to arginine substitution, Cys759Arg, results in high basal levels of constitutive JAK3 tyrosine phosphorylation unresponsive to either downregulation by serum starvation or cytokine-mediated upregulation Homo sapiens ?
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Synonyms

Synonyms Comment Organism
Janus family kinase JAK3
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 Homo sapiens
tyrosine-protein kinase JAK3
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 Homo sapiens